XYLT2 is associated with a phenotype on OMIM and probably associated with a phenotype on Gene2Phenotype. There are >3 unrelated cases of patients with Spondyloocular Syndrome who have cataracts who have different variants in the XYLT2 gene. Therfore, there is enough evidence for this gene to be green.
Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.
Panel Version: 1.32
This gene was submitted on behalf of Graeme Black (North West GLH). Gene Symbol submitted: XYLT2; Suggested initial gene rating: Green; Evidence for inclusion: [none provided]; Evidence for exclusion: [none provided]; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): [none provided]
Created: 28 Aug 2019, 3:42 p.m. | Last Modified: 28 Aug 2019, 3:42 p.m.
Panel Version: 1.31
gene: XYLT2 was added gene: XYLT2 was added to Cataracts. Sources: Expert Review Green,Expert list Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26987875; 26027496; 28884924; 30496831; 29136277 Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome, 605822